A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?

A Santoro, S Cannella, A Trizzino, LL Nigro… - …, 2005 - haematologica.org
A Santoro, S Cannella, A Trizzino, LL Nigro, G Corsello, M Arico
haematologica, 2005haematologica.org
We screened 100 children with acute lymphoblastic leukemia (ALL) to assess the incidence
of single amino acid change A91V in perforin. Heterozygous A91V was found in 12/100
patients and 5/127 controls (OR, 3.4; 95% CI: 1.15-9.95; p= 0.014). A91V is a novel and
frequent predisposing factor for childhood ALL.
Abstract
We screened 100 children with acute lymphoblastic leukemia (ALL) to assess the incidence of single amino acid change A91V in perforin. Heterozygous A91V was found in 12/100 patients and 5/127 controls (OR, 3.4; 95% CI: 1.15-9.95; p= 0.014). A91V is a novel and frequent predisposing factor for childhood ALL.
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